Marie Abitbol

Lyon, France

Last Updated: 09/26/2026

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Found 36 publications

The Animal Variant Classification Guidelines v2: An Update With New Criteria and Improved Clarifications.

The Animal Variant Classification Guidelines v2: An Update With New Criteria and Improved Clarifications.

Journal: Animal genetics

Published: April 24, 2026

TG Nonsense Variant in Dwarf Rottweiler Dogs.

TG Nonsense Variant in Dwarf Rottweiler Dogs.

Journal: Animal genetics

Published: February 15, 2026

Clinical, histopathological and genetic features of a cutaneous adnexal polycystic syndrome in Lykoi cats: a prospective study of 10 cases.

Clinical, histopathological and genetic features of a cutaneous adnexal polycystic syndrome in Lykoi cats: a prospective study of 10 cases.

Journal: Journal of feline medicine and surgery

Published: January 03, 2026

Characterisation of a Missense Variant of the Alström Syndrome Centrosome and Basal Body Associated Protein (ALMS1) Gene Associated with Cardiomyopathy Using Induced Pluripotent Stem Cells.

Characterisation of a Missense Variant of the Alström Syndrome Centrosome and Basal Body Associated Protein (ALMS1) Gene Associated with Cardiomyopathy Using Induced Pluripotent Stem Cells.

Journal: Genes

Published: December 08, 2025

Reproducibility of the Evaluation of Genetic Variant Pathogenicity Based on the Animal Variant Classification Guidelines.

Reproducibility of the Evaluation of Genetic Variant Pathogenicity Based on the Animal Variant Classification Guidelines.

Journal: Animal genetics

Published: December 03, 2025

Dominant blue eyes in Maine Coon cats: New PAX3 variant and updated phenotypic data.

Dominant blue eyes in Maine Coon cats: New PAX3 variant and updated phenotypic data.

Journal: Animal genetics

Published: March 11, 2025

Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals.

Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals.

Journal: Frontiers in veterinary science

Published: September 17, 2024

Corrigendum: Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines.

Corrigendum: Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines.

Journal: Frontiers in veterinary science

Published: July 02, 2024

Different Founding Effects Underlie Dominant Blue Eyes (DBE) in the Domestic Cat.

Different Founding Effects Underlie Dominant Blue Eyes (DBE) in the Domestic Cat.

Journal: Animals : an open access journal from MDPI

Published: June 04, 2024

A PAX3 insertion in the Celestial breed and certain feline breeding lines with dominant blue eyes.

A PAX3 insertion in the Celestial breed and certain feline breeding lines with dominant blue eyes.

Journal: Animal genetics

Published: March 15, 2024

PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome.

PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome.

Journal: G3 (Bethesda, Md.)

Published: February 26, 2024

Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines.

Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines.

Journal: Frontiers in veterinary science

Published: October 24, 2023

Showing 1-12 of 36

Last Updated: 09/26/2026